Journal article

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Karen L Oliver, Hans-Henrik M Dahl, Ingrid E Scheffer, Samuel F Berkovic

EPILEPSIA | WILEY | Published : 2014


The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain transporters. Inadequate energy delivery leads to neurologic impairment. Haploinsufficiency of the glucose transporter GLUT1 causes a characteristic early onset encephalopathy, and has recently emerged as an important cause of a variety of childhood or later-onset generalized epilepsies and paroxysmal exercise-induced dyskinesia. We explored whether mutations in the genes encoding the other major glucose (GLUT3) or lactate (MCT1/2/3/4) transporters involved in cerebral energy metabolism also cause generalized epilepsies. A cohort of 119 cases with myoclonic astatic e..

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Awarded by National Health and Medical Research Council

Awarded by Australia Fellowship

Awarded by Practitioner Fellowship

Awarded by Postdoctoral Training Fellowship

Funding Acknowledgements

We thank the patients and their families for participating in our research program. Tina Damiano, graphic artist, is acknowledged for designing Figure 1. Elena Aleksoska (University of Melbourne) is acknowledged for performing genomic DNA extractions. Slave Petrovski (Duke University) is thanked for advice on the tolerance of the GLUT and MCT genes to variation. This study was supported by National Health and Medical Research Council Program Grant (628952) to S.F.B and I.E.S, an Australia Fellowship (466671) to S.F.B, a Practitioner Fellowship (1006110) to I.E.S and a Postdoctoral Training Fellowship (546493) to M.S.H.